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Physicians Panel – Dr. McGuire, Arnold, Korson, Gillingham, Mary Sowa, MS, RD, CSP, and Dr. Longo

faod, IMC

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About the Speaker

Peter McGuire, MS, MMBCh

Dr. Peter McGuire received his bachelor's in psychology from Villanova University, a master's in microbiology and immunology from New York Medical College, and a M.B.B.Ch. with honors (equivalent to an M.D.) from the Royal College of Surgeons in Ireland. After completing a combined residency in pediatrics and medical genetics at Mount Sinai Medical Center, he was awarded a fellowship in biochemical genetics from the American College of Medical Genetics and Genzyme. After completing his training, he remained as a junior faculty member in the Program for Inherited Metabolic Diseases at Mount Sinai. Dr. McGuire is board certified in Pediatrics, Clinical Genetics and Biochemical Genetics.

In 2010, Dr. McGuire moved to the National Institutes of Health (NIH) to join the Physician Scientist Development Program to accelerate his translational research program. He was appointed to the position of tenure track investigator in 2016. Throughout his career, Dr. McGuire has been focused on improving the care of patients with disorders of mitochondrial metabolism. By combining his training in immunology and biochemical genetics, he fashioned a translational research program to understand host-pathogen interactions in disorders of mitochondrial metabolism.

His NIH Clinical Center protocols, the NIH MINI Study, is the first organized effort to study viral infection, immune function, and disease progression in patients with disorders of mitochondrial metabolism.

Georgianne Arnold, MD, Phd

Dr. Arnold graduated from Indiana University with degrees in biology and chemistry and has a Master's degree in Medical Genetics from Indiana University-Purdue University in Indianapolis. She graduated from medical school at Upstate Medical University and completed a residency in Pediatrics at Northwestern University. Her genetics training was at the University of Colorado, and she is boarded in Clinical Biochemical Genetics and Clinical Genetics.

Dr. Arnold was Clinical Director and, most recently, Clinical Research Director at the University of Pittsburgh. She is an Emeritus Professor and a consultant with Virtual Medical Practice. Dr. Arnold is the past president of the Society for Inherited Metabolic Disorders and the recipient of the Shapira Award for the best member’s paper in Molecular Genetics and Metabolism. She has a long-standing interest in fatty acid oxidation disorders, working with Dr. Vockley for 13 Years.

Mark Korson, MD

Dr. Mark Korson graduated in medicine from the University of Toronto and completed a pediatric residency at Toronto’s Hospital for Sick Children, followed by a genetics/metabolism fellowship at Boston’s Children’s Hospital. He directed the metabolic clinics at Boston Children’s Hospital until 2000 and across town at Tufts Medical Center until 2014. He co-founded and co-directs the North American Metabolic Academy, the premier educational experience around metabolic disease for genetics trainees on this continent. In 2017, he joined VMP Genetics as Director of Education and Physician Support Services, providing remote assistance to clinicians caring for patients with proven or suspected metabolic disease.

He also directs a very active education program that addresses knowledge gaps among non-genetic physicians, as well as non-physician health professionals who work in metabolic clinics but who have never had any formal training in this specialty. He initiated and oversees at VMP Genetics the Patient-Teacher Registry and Patient-Teacher Video Catalog, with the aim of ensuring that the patient voice plays a bigger role in the education of health professionals. Regionally, he is on the board of the New England Regional Genetics Network, and as a founding board member of Rare New England, hosts their annual Rare Disease Day Speakers Series in New England and their online Genetics Career Fairs.

Melanie Gillingham, PhD, RD, LD

Dr. Melanie Gillingham’s research in the Department of Molecular and Medical Genetics has focused on various novel therapies for fatty acid oxidation disorders. For 20 years, Dr. Gillingham and her colleagues have conducted clinical trials in subjects with disorders in the fatty acid oxidation pathway. She has examined the effects of medium chain triglycerides (MCT) supplements prior to exercise on exercise performance among subjects with long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency receiving the Emmanuel Shapira Award for best paper in Molecular Genetics and Metabolism. The Gillingham lab has evaluated the effects of increased dietary protein on metabolic control and energy balance in subjects with LCHAD, carnitine palmitoyltransferase 2 (CPT-2) and very long-chain acylCoA dehydrogenase (VLCAD) deficiencies. In a separate study, Dr. Gillingham conducted supervised metabolic fasting studies in young children with a polymorphism of the CPT1A gene to determine if they have an altered fasting response similar to other fatty acid oxidation disorders.

In 2014, a group of FAO researchers, under the leadership of Dr. Jerry Vockley, founded the International Network for Fatty Acid Oxidation Research and Management (INFORM), an international group working for the advancement of medical and nutrition therapies for fatty acid oxidation disorders (www.informnetwork.org). Dr. Gillingham participates on the organizing committee of INFORM.

Dr. Vockley and Dr. Gillingham completed a randomized trial to examine the effects of an odd-chain fatty acid supplement, triheptanion, on myopathy and cardiac function of patients with long-chain fatty acid oxidation disorders. This is the largest randomized controlled trial conducted in these disorders to date and was recently selected for the Garrod award by the Society for the Study of Inborn Errors of Metabolism (SSIEM). Dr. Gillingham has also conducted a series of studies examining the etiology of retinopathy in LCHAD and the role of diet in the progression of vision loss. Dr. Gillingham is currently conducting a larger natural history study of LCHAD retinopathy.